Referential communication abilities in children with 22q11.2 deletion syndrome

Heuvel, Ellen Van Den; Reuterskiöld, Christina; Solot, Cynthia; Manders, Eric; Swillen, Ann; Zink, Inge

doi:10.1080/17549507.2016.1221456

Cited by 14 publications

(10 citation statements)

References 65 publications

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“…In addition, difficulties are reported with narrative and descriptive language (Persson et al, 2006;Solot et al, 2001). Cross-linguistic, syndrome-specific deficits in perspective and role taking have been found in Dutch-and English-speaking children with conversational skills characterized by poor cohesion and information transfer (Van den Heuvel et al, 2017).…”

Section: Languagementioning

confidence: 99%

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

Solot

Sell

Mayne

et al. 2019

Am J Speech Lang Pathol

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Purpose Speech and language disorders are hallmark features of 22q11.2 deletion syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities, velopharyngeal dysfunction, behavioral differences, and various medical and psychiatric conditions are also major features of this syndrome. The goal of this document is to summarize the state of the art of current clinical and scientific knowledge regarding 22qDS for speech-language pathologists (SLPs) and provide recommendations for clinical management. Method Best practices for management of individuals with 22qDS were developed by consensus of an expert international group of SLPs and researchers with expertise in 22qDS. These care recommendations are based on the authors' research, clinical experience, and literature review. Results This document describes the features of 22qDS as well as evaluation procedures, treatment protocols, and associated management recommendations for SLPs for the often complex communication disorders present in this population. Conclusion Early diagnosis and appropriate management of speech-language disorders in 22qDS is essential to optimize outcomes and to minimize the long-term effects of communication impairments. Knowledge of this diagnosis also allows anticipatory care and guidance regarding associated features for families, health care, and educational professionals.

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Section: Languagementioning

confidence: 99%

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

Solot

Sell

Mayne

et al. 2019

Am J Speech Lang Pathol

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“…A small percentage of children and adolescents fall into the low average intelligence range (IQ 85–100), but also moderate to severe ID (35–55) is possible. Thus, learning difficulties are very common in preschool and primary school, especially within the domains of mathematics (De Smedt et al, 2009a, 2009b; Tobia, Brigstocke, Hulme, & Snowling, 2017; Wang, Woodin, Kreps-Falk, & Moss, 2000) and language comprehension (Glaser et al, 2002; Van den Heuvel et al, 2016). Cognitive deficits are seen in the majority (90–100%) of individuals with 22q11DS with impairments in sustained attention, executive function, memory, and visual-spatial perception (Antshel, Fremont, & Kates, 2008; Campbell & Swillen, 2005; Gur et al, 2014).…”

Section: | Cognitive Development In 22q112 Dsmentioning

confidence: 99%

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management

Swillen

Moss

Duijff

2018

American J of Med Genetics Pt A

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The 22q11.2 deletion syndrome (22q11.2 DS) places affected individuals at an increased risk for neurodevelopmental/cognitive, behavioral and social–emotional difficulties. Poor cognitive functioning and intellectual disabilities, attention and executive functioning deficits, learning disorders, emotional dysregulation and impairments in social processing are common among individuals with 22q11.2 DS. Identifying risk and protective/resilience factors that can be detected in early life and can predict neurodevelopmental outcomes for people with 22q11.2 DS is of significant clinical relevance and might allow for early detection and intervention. Given the focus of this review, we will discuss the possible contributing factors that influence the neurodevelopmental outcome in 22q1.2 DS, the cognitive phenotype in 22q11.2 DS, the different developmental trajectories across life span, and the implications for clinical practice and management.

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“…Impoverished information transfer and difficulties with initiating a story retelling were reported in 18 Swedish-speaking children (5–8 years old; Persson et al, 2006). Van Den Heuvel, Reuterskiöld and colleagues (2017) also found ambiguity to be a feature of language in 27 school-aged children with 22q11.2DS. They reported inadequate use of contextual cues, subsequent difficulties in selecting appropriate speech acts during a role-taking task and an elevated number of irrelevant or off-topic elaborations in a barrier-game (Van Den Heuvel, Reuterskiöld et al, 2017).…”

Section: Introductionmentioning

confidence: 87%

“…Van Den Heuvel, Reuterskiöld and colleagues (2017) also found ambiguity to be a feature of language in 27 school-aged children with 22q11.2DS. They reported inadequate use of contextual cues, subsequent difficulties in selecting appropriate speech acts during a role-taking task and an elevated number of irrelevant or off-topic elaborations in a barrier-game (Van Den Heuvel, Reuterskiöld et al, 2017). Other information on conversational features in children with 22q11.2DS comes from anecdotal descriptions rather than systematic research.…”

Section: Conversation Skills In Children With 22q112 Deletion Syndromementioning

confidence: 99%

Developmental course of conversational behaviour of children with 22q11.2 deletion syndrome and Williams syndrome

Heuvel

Botting

Boudewijns³

et al. 2017

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This study investigated three conversational subskills in children with 22q11.2 deletion syndrome (22q11.2DS, n = 8, ages 7-13) and Williams syndrome (WS, n = 8, ages 6-12). The researchers re-evaluated these subskills after 18 to 24 months and compared them to those of peers with idiopathic intellectual disability (IID) and IID and comorbid autism spectrum disorders (IID+ASD). Children with 22q11.2DS became less actively involved over time. Lower assertiveness than in children with IID was demonstrated. They seemed less impaired in terms of accounting for listener's knowledge than children with IID+ASD. Children with WS showed greater difficulties with discourse

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Referential communication abilities in children with 22q11.2 deletion syndrome

Abstract: Both English- and Dutch-speaking children with 22q11.2DS showed impoverished information transfer and an increased number of elaborations, suggesting a cross-cultural syndrome-specific feature.

Cited by 14 publications

References 65 publications

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management

Developmental course of conversational behaviour of children with 22q11.2 deletion syndrome and Williams syndrome

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